First Report of Biallelic NPPC Variants Causing Acromesomelic Type of Short Stature

C-type natriuretic peptide (CNP) increases chondrocyte maturation and growth of long bones by acting on its receptor NPR-B. Increased activity of CNP and NPR-B has been reported to cause tall stature while decreased activity of NPR-B causes short stature. Monoallelic loss-of-function variants in NPPC, which codes for CNP, have been reported in patients with idiopathic short stature. We report a patient with acromesomelic type of short stature due to biallelic missense variants in NPPC which codes for CNP.